Inherited and Acquired Bone Marrow Failure Syndromes: In the Era of Deep Gene Sequencing

Bone marrow failure syndromes (BMFS) are a cluster of inherited or acquired disorders characterized by peripheral cytopenia due to a decrease in hematopoietic progenitors or dysregulated hematopoiesis. Inherited bone marrow failure syndromes are mainly found in pediatric group, encompassing Diamond Blackfan anemia (DBA), Fanconi anemia (FA), congenital sideroblastic anemia (CSA), congenital neutropenia (CN), congenital dyserythropoiestic anemia (CDA), Shwachman Diamond syndrome (SDS), and dyskeratosis congenita (DC) [1], In contrast, acquired bone marrow syndromes are more commonly seen in adults and mainly include acquired aplastic anemia (AA), acquired megakaryocytic thrombocytopenia (AMT), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplastic syndromes (MDS).